Publications:

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Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.

Biomedicines

Bruno, Francesco F; Laganà, Valentina V; Di Lorenzo, Raffaele R; Bruni, Amalia C AC; Maletta, Raffaele R

Publication Date: 2022-09-15

Variant appearance in text: PSEN1: I143V

PubMed Link: 36140389

Variant Present in the following documents:

• Main text
• biomedicines-10-02288.pdf

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Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.

Kidney International Reports

Cogal, Andrea G AG; Arroyo, Jennifer J; Shah, Ronak Jagdeep RJ; Reese, Kalina J KJ; Walton, Brenna N BN; Reynolds, Laura M LM; Kennedy, Gabrielle N GN; Seide, Barbara M BM; Senum, Sarah R SR; Baum, Michelle M; Erickson, Stephen B SB; Jagadeesh, Sujatha S; Soliman, Neveen A NA; Goldfarb, David S DS; Beara-Lasic, Lada L; Edvardsson, Vidar O VO; Palsson, Runolfur R; Milliner, Dawn S DS; Sas, David J DJ; Lieske, John C JC; Harris, Peter C PC; ,

Publication Date: 2021-11

Variant appearance in text: PS1: 427A>G

PubMed Link: 34805638

Variant Present in the following documents:

• main.pdf

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Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology

Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D

Publication Date: 2021-11

Variant appearance in text: PSEN1: Ile143Val

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.pdf

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The Links between Cardiovascular Diseases and Alzheimer's Disease.

Current Neuropharmacology

Leszek, Jerzy J; Mikhaylenko, Elizaveta V EV; Belousov, Dmitrii M DM; Koutsouraki, Efrosini E; Szczechowiak, Katarzyna K; Kobusiak-Prokopowicz, Małgorzata M; Mysiak, Andrzej A; Diniz, Breno Satler BS; Somasundaram, Siva G SG; Kirkland, Cecil E CE; Aliev, Gjumrakch G

Publication Date: 2021

Variant appearance in text: PS1: I143V

PubMed Link: 32727331

Variant Present in the following documents:

• Main text
• CN-19-152.pdf

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: I143V

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports

Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-06-10

Variant appearance in text: PSEN1: 427A>G; Ile143Val

PubMed Link: 31182772

Variant Present in the following documents:

• 41598_2019_44848_MOESM1_ESM.pdf

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A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.

Clinical Interventions In Aging

Giau, Vo Van VV; Pyun, Jung-Min JM; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: PSEN1: 427A>G; I143V

PubMed Link: 30104866

Variant Present in the following documents:

• Main text
• cia-13-1321.pdf

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Translational Research in Alzheimer's and Prion Diseases.

Journal Of Alzheimer'S Disease : Jad

Di Fede, Giuseppe G; Giaccone, Giorgio G; Salmona, Mario M; Tagliavini, Fabrizio F

Publication Date: 2018

Variant appearance in text: PSEN1: I143V

PubMed Link: 29172000

Variant Present in the following documents:

• Main text
• jad-62-jad170770.pdf

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Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y

Publication Date: 2017-01-24

Variant appearance in text: PS1: I143V

PubMed Link: 27930341

Variant Present in the following documents:

• Main text

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: PSEN1: Ile143Val

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

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Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

Frontiers In Aging Neuroscience

Li, Nuomin N; Liu, Kefu K; Qiu, Yunjie Y; Ren, Zehui Z; Dai, Rongji R; Deng, Yulin Y; Qing, Hong H

Publication Date: 2016

Variant appearance in text: PS1: I143V

PubMed Link: 27014058

Variant Present in the following documents:

• Main text
• fnagi-08-00051.pdf

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An atomic structure of human γ-secretase.

Nature

Bai, Xiao-Chen XC; Yan, Chuangye C; Yang, Guanghui G; Lu, Peilong P; Ma, Dan D; Sun, Linfeng L; Zhou, Rui R; Scheres, Sjors H W SHW; Shi, Yigong Y

Publication Date: 2015-09-10

Variant appearance in text: PS1: I143V

PubMed Link: 26280335

Variant Present in the following documents:

• Main text

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Clinical genetics of Alzheimer's disease.

Biomed Research International

Zou, Zhangyu Z; Liu, Changyun C; Che, Chunhui C; Huang, Huapin H

Publication Date: 2014

Variant appearance in text: PSEN1: I143V

PubMed Link: 24955352

Variant Present in the following documents:

• Main text

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN1: Ile143Val

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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